Skip to main content
Top
Published in: Journal of Neurodevelopmental Disorders 4/2011

Open Access 01-12-2011 | Article

Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader–Willi syndrome

Authors: Cindi G. Flores, Gregory Valcante, Steve Guter, Annette Zaytoun, Emily Wray, Lindsay Bell, Suma Jacob, Mark H. Lewis, Daniel J. Driscoll, Edwin H. Cook Jr., Soo-Jeong Kim

Published in: Journal of Neurodevelopmental Disorders | Issue 4/2011

Login to get access

Abstract

Restricted and repetitive behavior (RRB) is a group of heterogeneous maladaptive behaviors. RRB is one of the key diagnostic features of autism spectrum disorders (ASDs) and also commonly observed in Prader–Willi syndrome (PWS). In this study, we assessed RRB using the Repetitive Behavior Scale-Revised (RBS-R) in two ASD samples (University of Illinois at Chicago [UIC] and University of Florida [UF]) and one PWS sample. We compared the RBS-R item endorsements across three ASD cohorts (UIC, UF and an ASD sample from Lam, The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables, PhD thesis, 2004), and a PWS sample. We also compared the mean RBS-R subscale/sum scores across the UIC, UF and PWS samples; across the combined ASD (UIC + UF), PWS-deletion and PWS-disomy groups; and across the combined ASD sample, PWS subgroup with a Social Communication Questionnaire (SCQ) score ≥15, and PWS subgroup with a SCQ score <15. Despite the highly heterogeneous nature, the three ASD samples (UIC, UF and Lam’s) showed a similar pattern of the RBS-R endorsements, and the mean RBS-R scores were not different between the UIC and UF samples. However, higher RRB was noted in the ASD sample compared with the PWS sample, as well as in the PWS subgroup with a SCQ score ≥15 compared with the PWS subgroup with a SCQ score <15. Study limitations include a small sample size, a wide age range of our participants, and not controlling for potential covariates. A future replication study using a larger sample and further investigation into the genetic bases of overlapping ASD and RRB phenomenology are needed, given the higher RRB in the PWS subgroup with a SCQ score ≥15.
Literature
go back to reference APA. Diagnostic and statistical manual of mental disorders, text revision (DSM-IV-TR). 4th ed. Washington, DC: American Psychiatric Publishing; 2000. APA. Diagnostic and statistical manual of mental disorders, text revision (DSM-IV-TR). 4th ed. Washington, DC: American Psychiatric Publishing; 2000.
go back to reference Bishop DV, Norbury CF. Exploring the borderlands of autistic disorder and specific language impairment: a study using standardised diagnostic instruments. J Child Psychol Psychiatry. 2002;43(7):917–29.CrossRefPubMed Bishop DV, Norbury CF. Exploring the borderlands of autistic disorder and specific language impairment: a study using standardised diagnostic instruments. J Child Psychol Psychiatry. 2002;43(7):917–29.CrossRefPubMed
go back to reference Bodfish JW et al. Compulsions in adults with mental retardation: prevalence, phenomenology, and comorbidity with stereotypy and self-injury. Am J Ment Retard. 1995;100(2):183–92.PubMed Bodfish JW et al. Compulsions in adults with mental retardation: prevalence, phenomenology, and comorbidity with stereotypy and self-injury. Am J Ment Retard. 1995;100(2):183–92.PubMed
go back to reference Bodfish JW et al. Varieties of repetitive behavior in autism: comparisons to mental retardation. J Autism Dev Disord. 2000;30(3):237–43.CrossRefPubMed Bodfish JW et al. Varieties of repetitive behavior in autism: comparisons to mental retardation. J Autism Dev Disord. 2000;30(3):237–43.CrossRefPubMed
go back to reference Bolton PF et al. Chromosome 15q11–13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatr Genet. 2004;14(3):131–7.CrossRefPubMed Bolton PF et al. Chromosome 15q11–13 abnormalities and other medical conditions in individuals with autism spectrum disorders. Psychiatr Genet. 2004;14(3):131–7.CrossRefPubMed
go back to reference Boyar FZ et al. A family with a grand-maternally derived interstitial duplication of proximal 15q. Clin Genet. 2001;60(6):421–30.CrossRefPubMed Boyar FZ et al. A family with a grand-maternally derived interstitial duplication of proximal 15q. Clin Genet. 2001;60(6):421–30.CrossRefPubMed
go back to reference Butler MG et al. Behavioral differences among subjects with Prader–Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics. 2004;113(3 Pt 1):565–73.CrossRefPubMed Butler MG et al. Behavioral differences among subjects with Prader–Willi syndrome and type I or type II deletion and maternal disomy. Pediatrics. 2004;113(3 Pt 1):565–73.CrossRefPubMed
go back to reference Buxbaum JD et al. Association between a GABRB3 polymorphism and autism. Mol Psychiatry. 2002;7(3):311–6.CrossRefPubMed Buxbaum JD et al. Association between a GABRB3 polymorphism and autism. Mol Psychiatry. 2002;7(3):311–6.CrossRefPubMed
go back to reference Charman T et al. Efficacy of three screening instruments in the identification of autistic-spectrum disorders. Br J Psychiatry. 2007;191:554–9.CrossRefPubMed Charman T et al. Efficacy of three screening instruments in the identification of autistic-spectrum disorders. Br J Psychiatry. 2007;191:554–9.CrossRefPubMed
go back to reference Chandler S et al. Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders. J Am Acad Child Adolesc Psychiatry. 2007;46(10):1324–32.CrossRefPubMed Chandler S et al. Validation of the social communication questionnaire in a population cohort of children with autism spectrum disorders. J Am Acad Child Adolesc Psychiatry. 2007;46(10):1324–32.CrossRefPubMed
go back to reference Cook Jr EH et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet. 1997;60(4):928–34.PubMedCentralPubMed Cook Jr EH et al. Autism or atypical autism in maternally but not paternally derived proximal 15q duplication. Am J Hum Genet. 1997;60(4):928–34.PubMedCentralPubMed
go back to reference Corsello C et al. Between a ROC and a hard place: decision making and making decisions about using the SCQ. J Child Psychol Psychiatry. 2007;48(9):932–40.CrossRefPubMed Corsello C et al. Between a ROC and a hard place: decision making and making decisions about using the SCQ. J Child Psychol Psychiatry. 2007;48(9):932–40.CrossRefPubMed
go back to reference Curran S et al. An association analysis of microsatellite markers across the Prader–Willi/Angelman critical region on chromosome 15 (q11–13) and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet. 2005;137(1):25–8.CrossRef Curran S et al. An association analysis of microsatellite markers across the Prader–Willi/Angelman critical region on chromosome 15 (q11–13) and autism spectrum disorder. Am J Med Genet B Neuropsychiatr Genet. 2005;137(1):25–8.CrossRef
go back to reference Dimitropoulos A, Schultz RT. Autistic-like symptomatology in Prader–Willi Syndrome: a review of recent findings. Curr Psychiatry Rep. 2007;9(2):159–64.CrossRefPubMed Dimitropoulos A, Schultz RT. Autistic-like symptomatology in Prader–Willi Syndrome: a review of recent findings. Curr Psychiatry Rep. 2007;9(2):159–64.CrossRefPubMed
go back to reference Dykens EM, Leckman JF, Cassidy SB. Obsessions and compulsions in Prader–Willi syndrome. J Child Psychol Psychiatry. 1996;37(8):995–1002.CrossRefPubMed Dykens EM, Leckman JF, Cassidy SB. Obsessions and compulsions in Prader–Willi syndrome. J Child Psychol Psychiatry. 1996;37(8):995–1002.CrossRefPubMed
go back to reference Dykens EM, Cassidy SB, King BH. Maladaptive behavior differences in Prader–Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard. 1999;104(1):67–77.CrossRefPubMed Dykens EM, Cassidy SB, King BH. Maladaptive behavior differences in Prader–Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard. 1999;104(1):67–77.CrossRefPubMed
go back to reference Evans DW et al. Ritual, habit, and perfectionism: the prevalence and development of compulsive-like behavior in normal young children. Child Dev. 1997;68(1):58–68.CrossRefPubMed Evans DW et al. Ritual, habit, and perfectionism: the prevalence and development of compulsive-like behavior in normal young children. Child Dev. 1997;68(1):58–68.CrossRefPubMed
go back to reference Greaves N et al. Repetitive and ritualistic behaviour in children with Prader–Willi syndrome and children with autism. J Intellect Disabil Res. 2006;50(Pt 2):92–100.CrossRefPubMed Greaves N et al. Repetitive and ritualistic behaviour in children with Prader–Willi syndrome and children with autism. J Intellect Disabil Res. 2006;50(Pt 2):92–100.CrossRefPubMed
go back to reference Horsthemke B, Buiting K. Genomic imprinting and imprinting defects in humans. Adv Genet. 2008;61:225–46.CrossRefPubMed Horsthemke B, Buiting K. Genomic imprinting and imprinting defects in humans. Adv Genet. 2008;61:225–46.CrossRefPubMed
go back to reference Lam KSL. The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables. PhD thesis, Ohio State University, p. 129; 2004. Lam KSL. The Repetitive Behavior Scale-Revised: independent validation and the effect of subject variables. PhD thesis, Ohio State University, p. 129; 2004.
go back to reference Lam KS, Aman MG. The Repetitive Behavior Scale-Revised: independent validation in individuals with autism spectrum disorders. J Autism Dev Disord. 2007;37(5):855–66.CrossRefPubMed Lam KS, Aman MG. The Repetitive Behavior Scale-Revised: independent validation in individuals with autism spectrum disorders. J Autism Dev Disord. 2007;37(5):855–66.CrossRefPubMed
go back to reference Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24(5):659–85.CrossRefPubMed Lord C, Rutter M, Le Couteur A. Autism Diagnostic Interview-Revised: a revised version of a diagnostic interview for caregivers of individuals with possible pervasive developmental disorders. J Autism Dev Disord. 1994;24(5):659–85.CrossRefPubMed
go back to reference Lord C et al. The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30(3):205–23.CrossRefPubMed Lord C et al. The Autism Diagnostic Observation Schedule-Generic: a standard measure of social and communication deficits associated with the spectrum of autism. J Autism Dev Disord. 2000;30(3):205–23.CrossRefPubMed
go back to reference Mandy WP, Skuse DH. Research review: What is the association between the social-communication element of autism and repetitive interests, behaviours and activities? J Child Psychol Psychiatry. 2008;49(8):795–808.CrossRefPubMed Mandy WP, Skuse DH. Research review: What is the association between the social-communication element of autism and repetitive interests, behaviours and activities? J Child Psychol Psychiatry. 2008;49(8):795–808.CrossRefPubMed
go back to reference Martin ER et al. Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet. 2000;96(1):43–8.CrossRefPubMed Martin ER et al. Analysis of linkage disequilibrium in gamma-aminobutyric acid receptor subunit genes in autistic disorder. Am J Med Genet. 2000;96(1):43–8.CrossRefPubMed
go back to reference McCauley JL et al. A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am J Med Genet B Neuropsychiatr Genet. 2004;131(1):51–9.CrossRef McCauley JL et al. A linkage disequilibrium map of the 1-Mb 15q12 GABA(A) receptor subunit cluster and association to autism. Am J Med Genet B Neuropsychiatr Genet. 2004;131(1):51–9.CrossRef
go back to reference Milner KM et al. Prader–Willi syndrome: intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatry. 2005;46(10):1089–96.CrossRefPubMed Milner KM et al. Prader–Willi syndrome: intellectual abilities and behavioural features by genetic subtype. J Child Psychol Psychiatry. 2005;46(10):1089–96.CrossRefPubMed
go back to reference Mirenda P et al. Validating the Repetitive Behavior Scale-revised in young children with autism spectrum disorder. J Autism Dev Disord. 2010;40(12):1521–30.CrossRefPubMed Mirenda P et al. Validating the Repetitive Behavior Scale-revised in young children with autism spectrum disorder. J Autism Dev Disord. 2010;40(12):1521–30.CrossRefPubMed
go back to reference Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader–Willi and Angelman syndromes. Annu Rev Genomics Hum Genet. 2001;2:153–75.CrossRefPubMed Nicholls RD, Knepper JL. Genome organization, function, and imprinting in Prader–Willi and Angelman syndromes. Annu Rev Genomics Hum Genet. 2001;2:153–75.CrossRefPubMed
go back to reference Philippe A et al. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet. 1999;8(5):805–12.CrossRefPubMed Philippe A et al. Genome-wide scan for autism susceptibility genes. Paris Autism Research International Sibpair Study. Hum Mol Genet. 1999;8(5):805–12.CrossRefPubMed
go back to reference Ronald A et al. Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry. 2006;45(6):691–9.CrossRefPubMed Ronald A et al. Genetic heterogeneity between the three components of the autism spectrum: a twin study. J Am Acad Child Adolesc Psychiatry. 2006;45(6):691–9.CrossRefPubMed
go back to reference Rutter M, Bailey A, Lord C. Social Communication Questionnaire (SCQ). Los Angeles, CA: Western Psychological Services; 2003. Rutter M, Bailey A, Lord C. Social Communication Questionnaire (SCQ). Los Angeles, CA: Western Psychological Services; 2003.
go back to reference Shao Y et al. Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet. 2002;114(1):99–105.CrossRefPubMed Shao Y et al. Genomic screen and follow-up analysis for autistic disorder. Am J Med Genet. 2002;114(1):99–105.CrossRefPubMed
go back to reference Silverman JM et al. Symptom domains in autism and related conditions: evidence for familiality. Am J Med Genet. 2002;114(1):64–73.CrossRefPubMed Silverman JM et al. Symptom domains in autism and related conditions: evidence for familiality. Am J Med Genet. 2002;114(1):64–73.CrossRefPubMed
go back to reference Torrado M, et al. Clinical–etiologic correlation in children with Prader–Willi syndrome (PWS): An interdisciplinary study. Am J Med Genet A. 2006. Torrado M, et al. Clinical–etiologic correlation in children with Prader–Willi syndrome (PWS): An interdisciplinary study. Am J Med Genet A. 2006.
go back to reference Veltman MW et al. Prader–Willi syndrome—a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. Eur Child Adolesc Psychiatry. 2004;13(1):42–50.CrossRefPubMed Veltman MW et al. Prader–Willi syndrome—a study comparing deletion and uniparental disomy cases with reference to autism spectrum disorders. Eur Child Adolesc Psychiatry. 2004;13(1):42–50.CrossRefPubMed
go back to reference Veltman MW, Craig EE, Bolton PF. Autism spectrum disorders in Prader–Willi and Angelman syndromes: a systematic review. Psychiatr Genet. 2005;15(4):243–54.CrossRefPubMed Veltman MW, Craig EE, Bolton PF. Autism spectrum disorders in Prader–Willi and Angelman syndromes: a systematic review. Psychiatr Genet. 2005;15(4):243–54.CrossRefPubMed
Metadata
Title
Repetitive behavior profiles: Consistency across autism spectrum disorder cohorts and divergence from Prader–Willi syndrome
Authors
Cindi G. Flores
Gregory Valcante
Steve Guter
Annette Zaytoun
Emily Wray
Lindsay Bell
Suma Jacob
Mark H. Lewis
Daniel J. Driscoll
Edwin H. Cook Jr.
Soo-Jeong Kim
Publication date
01-12-2011
Publisher
BioMed Central
Published in
Journal of Neurodevelopmental Disorders / Issue 4/2011
Print ISSN: 1866-1947
Electronic ISSN: 1866-1955
DOI
https://doi.org/10.1007/s11689-011-9094-3

Other articles of this Issue 4/2011

Journal of Neurodevelopmental Disorders 4/2011 Go to the issue